How genetics affect head size and brain development in autism

It started with an observation: Children with autism who also have a certain gene mutation tend to have especially large heads.

That observation led to some of the first research linking the PTEN genetic mutation to developmental issues in a group of children with autism. Researchers Thomas Frazier, PhD, and Charis Eng, MD, PhD, published a study that sheds light on the effect of such a mutation on children.

Dr. Eng originally discovered the PTEN gene in 1997. She has been working with patients with PTEN mutations — and specifically the genetic disorder Cowden syndrome, which highly increases a personís lifetime risk for cancer — for years. She had observed the head size of children with autism in these families during that time. She also discovered that a small but important subset of individuals with autism and large head size carried PTEN mutations in 2005.

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18th December 2014